rs1950209

Variant names:

• chr14-54300931-G-A
• rs1950209

Your query was ambiguous. Multiple possible variants found:

• chr14-54300931-G-A
• chr14-54300931-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.495 in 152,012 control chromosomes in the GnomAD database, including 19,268 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.50 (19268 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.11

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.51 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.495 AC: 75188 AN: 151894 Hom.: 19241 Cov.: 32

Gnomad AFR AF: 0.515

Gnomad AMI AF: 0.471

Gnomad AMR AF: 0.408

Gnomad ASJ AF: 0.422

Gnomad EAS AF: 0.145

Gnomad SAS AF: 0.508

Gnomad FIN AF: 0.622

Gnomad MID AF: 0.415

Gnomad NFE AF: 0.514

Gnomad OTH AF: 0.440

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.495 AC: 75251 AN: 152012 Hom.: 19268 Cov.: 32 AF XY: 0.497 AC XY: 36898 AN XY: 74282

Gnomad4 AFR AF: 0.516

Gnomad4 AMR AF: 0.408

Gnomad4 ASJ AF: 0.422

Gnomad4 EAS AF: 0.145

Gnomad4 SAS AF: 0.510

Gnomad4 FIN AF: 0.622

Gnomad4 NFE AF: 0.514

Gnomad4 OTH AF: 0.434

Alfa AF: 0.500 Hom.: 3274

Bravo AF: 0.476

Asia WGS AF: 0.319 AC: 1111 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.5
DANN	Benign	0.45

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1950209; hg19: chr14-54767649;